Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Filensin (also known as BFSP1) is a lens-specific cytoskeletal protein that interacts with aquaporin-0 (AQP0). It plays an important role during lens development []. Mutations of the Filensin gene cause Cataract 33, multiple types (CTRCT33), an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Masaki S |
Year: |
1994 |
Journal: |
Genomics |
Title: |
The gene Bfsp1 for the lens fiber cell beaded-filament structural protein CP94 maps to mouse chromosome 2. |
Volume: |
22 |
Issue: |
2 |
Pages: |
449-50 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
669
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
636
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Wang Z |
Year: |
2017 |
Journal: |
Exp Eye Res |
Title: |
Identification of a direct Aquaporin-0 binding site in the lens-specific cytoskeletal protein filensin. |
Volume: |
159 |
|
Pages: |
23-29 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ramachandran RD |
Year: |
2007 |
Journal: |
Hum Genet |
Title: |
Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. |
Volume: |
121 |
Issue: |
3-4 |
Pages: |
475-82 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Masaki S |
Year: |
1997 |
Journal: |
Gene |
Title: |
Gene structure and sequence comparisons of the eye lens specific protein, filensin, from rat and mouse: implications for protein classification and assembly. |
Volume: |
201 |
Issue: |
1-2 |
Pages: |
11-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Masaki S |
Year: |
1998 |
Journal: |
Gene |
Title: |
Identification and functional analysis of the mouse lens filensin gene promoter. |
Volume: |
214 |
Issue: |
1-2 |
Pages: |
77-86 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gounari F |
Year: |
1997 |
Journal: |
FEBS Lett |
Title: |
The mouse filensin gene: structure and evolutionary relation to other intermediate filament genes. |
Volume: |
413 |
Issue: |
2 |
Pages: |
371-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Alizadeh A |
Year: |
2003 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Targeted deletion of the lens fiber cell-specific intermediate filament protein filensin. |
Volume: |
44 |
Issue: |
12 |
Pages: |
5252-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rendtorff ND |
Year: |
1998 |
Journal: |
Genomics |
Title: |
Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1. |
Volume: |
53 |
Issue: |
1 |
Pages: |
114-6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6161358 |
Assay Type: |
RT-PCR |
Annotation Date: |
2018-06-18 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3185817 |
|
Stage: |
TS17 |
Assay Id: |
MGI:6161393 |
Age: |
embryonic day 10.5 |
|
|
Specimen Label: |
Before fusion |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6161358 |
Assay Type: |
RT-PCR |
Annotation Date: |
2018-06-18 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3185818 |
|
Stage: |
TS18 |
Assay Id: |
MGI:6161393 |
Age: |
embryonic day 11.0 |
|
|
Specimen Label: |
After fusion |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1619828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6690915 |
Age: |
postnatal adult |
Image: |
UC Davis_1888857 |
|
Specimen Label: |
UC Davis_1888857 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1619828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6690915 |
Age: |
postnatal adult |
Image: |
UC Davis_1888858 |
|
Specimen Label: |
UC Davis_1888858 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1619828 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6690915 |
Age: |
postnatal adult |
Image: |
UC Davis_1888859 |
|
Specimen Label: |
UC Davis_1888859 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4416324 |
Assay Type: |
RNA in situ |
Annotation Date: |
2010-09-14 |
Strength: |
Strong |
Sex: |
Not Specified |
Emaps: |
EMAPS:1783823 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4823462 |
Age: |
embryonic day 14.5 |
Image: |
euxassay_009902_01 |
|
Specimen Label: |
euxassay_009902_01 |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1868128 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6690915 |
Age: |
postnatal adult |
Image: |
UC Davis_1888862 |
Note: |
vas deferens |
Specimen Label: |
UC Davis_1888862 |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1797228 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6690915 |
Age: |
postnatal adult |
Image: |
UC Davis_1888860 |
|
Specimen Label: |
UC Davis_1888860 |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
|
Assay Type: |
In situ reporter (knock in) |
Annotation Date: |
2021-04-16 |
Strength: |
Present |
Sex: |
Male |
Emaps: |
EMAPS:1929028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:6690915 |
Age: |
postnatal adult |
Image: |
UC Davis_1888861 |
|
Specimen Label: |
UC Davis_1888861 |
Detected: |
true |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5693140 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2015-10-22 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1784321 |
Pattern: |
Not Specified |
Stage: |
TS21 |
Assay Id: |
MGI:5693158 |
Age: |
embryonic day 12.5 |
|
|
Specimen Label: |
10A |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yoon KH |
Year: |
2008 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Resisting the effects of aging: a function for the fiber cell beaded filament. |
Volume: |
49 |
Issue: |
3 |
Pages: |
1030-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
FitzGerald P |
Year: |
2016 |
Journal: |
Mol Vis |
Title: |
Expression of the type VI intermediate filament proteins CP49 and filensin in the mouse lens epithelium. |
Volume: |
22 |
|
Pages: |
970-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sandilands A |
Year: |
2004 |
Journal: |
Exp Eye Res |
Title: |
Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. |
Volume: |
78 |
Issue: |
4 |
Pages: |
875-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wyatt K |
Year: |
2008 |
Journal: |
J Biol Chem |
Title: |
A role for lengsin, a recruited enzyme, in terminal differentiation in the vertebrate lens. |
Volume: |
283 |
Issue: |
10 |
Pages: |
6607-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shi X |
Year: |
2009 |
Journal: |
BMC Mol Biol |
Title: |
Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression. |
Volume: |
10 |
|
Pages: |
10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kumari S |
Year: |
2017 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Aquaporin 0 Modulates Lens Gap Junctions in the Presence of Lens-Specific Beaded Filament Proteins. |
Volume: |
58 |
Issue: |
14 |
Pages: |
6006-6019 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yoon KH |
Year: |
2009 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Periplakin interactions with lens intermediate and beaded filaments. |
Volume: |
50 |
Issue: |
3 |
Pages: |
1283-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
DePianto DJ |
Year: |
2003 |
Journal: |
Mol Vis |
Title: |
Analysis of non-crystallin lens fiber cell gene expression in c-Maf -/- mice. |
Volume: |
9 |
|
Pages: |
288-94 |
|
•
•
•
•
•
|
Publication |
First Author: |
Reneker LW |
Year: |
2004 |
Journal: |
Int J Dev Biol |
Title: |
Activated Ras induces lens epithelial cell hyperplasia but not premature differentiation. |
Volume: |
48 |
Issue: |
8-9 |
Pages: |
879-88 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2000 |
Journal: |
Oncogene |
Title: |
E2F1 mediates ectopic proliferation and stage-specific p53-dependent apoptosis but not aberrant differentiation in the ocular lens of Rb deficient fetuses. |
Volume: |
19 |
Issue: |
52 |
Pages: |
6065-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
Min JN |
Year: |
2004 |
Journal: |
Genesis |
Title: |
Unique contribution of heat shock transcription factor 4 in ocular lens development and fiber cell differentiation. |
Volume: |
40 |
Issue: |
4 |
Pages: |
205-17 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen Y |
Year: |
2008 |
Journal: |
Dev Biol |
Title: |
Wnt signaling is required for organization of the lens fiber cell cytoskeleton and development of lens three-dimensional architecture. |
Volume: |
324 |
Issue: |
1 |
Pages: |
161-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sandilands A |
Year: |
2002 |
Journal: |
EMBO J |
Title: |
Altered aggregation properties of mutant gamma-crystallins cause inherited cataract. |
Volume: |
21 |
Issue: |
22 |
Pages: |
6005-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Basu S |
Year: |
2014 |
Journal: |
J Biol Chem |
Title: |
α6 integrin transactivates insulin-like growth factor receptor-1 (IGF-1R) to regulate caspase-3-mediated lens epithelial cell differentiation initiation. |
Volume: |
289 |
Issue: |
7 |
Pages: |
3842-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xie L |
Year: |
2006 |
Journal: |
Dev Biol |
Title: |
Ras signaling is essential for lens cell proliferation and lens growth during development. |
Volume: |
298 |
Issue: |
2 |
Pages: |
403-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Maddala R |
Year: |
2011 |
Journal: |
Dev Biol |
Title: |
Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers. |
Volume: |
357 |
Issue: |
1 |
Pages: |
179-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pontoriero GF |
Year: |
2008 |
Journal: |
Dev Dyn |
Title: |
Cell autonomous roles for AP-2alpha in lens vesicle separation and maintenance of the lens epithelial cell phenotype. |
Volume: |
237 |
Issue: |
3 |
Pages: |
602-17 |
|
•
•
•
•
•
|
Publication |
First Author: |
He S |
Year: |
2010 |
Journal: |
Epigenetics Chromatin |
Title: |
Chromatin remodeling enzyme Brg1 is required for mouse lens fiber cell terminal differentiation and its denucleation. |
Volume: |
3 |
Issue: |
1 |
Pages: |
21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wigle JT |
Year: |
1999 |
Journal: |
Nat Genet |
Title: |
Prox1 function is crucial for mouse lens-fibre elongation. |
Volume: |
21 |
Issue: |
3 |
Pages: |
318-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gong SG |
Year: |
2005 |
Journal: |
J Dent Res |
Title: |
Identification of markers of the midface. |
Volume: |
84 |
Issue: |
1 |
Pages: |
69-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
Goudreau G |
Year: |
2002 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype. |
Volume: |
99 |
Issue: |
13 |
Pages: |
8719-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Knockout Mouse Consortium |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of modified allele data from IKMC and creation of new knockout alleles |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
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PLoS Biol |
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A high-resolution anatomical atlas of the transcriptome in the mouse embryo. |
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Mouse Genome Informatics Scientific Curators |
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2010 |
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2010 |
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Mouse Genome Informatics Scientific Curators |
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Mouse Genome Informatics Scientific Curators |
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2005 |
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Obtaining and loading genome assembly coordinates from NCBI annotations |
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Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
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Mouse Genome Database and National Center for Biotechnology Information |
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2009 |
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Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
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Database Procedure |
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Mouse Genome Informatics Scientific Curators |
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2009 |
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Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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UniProt Feature |
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interaction with BFSP1 |
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UniProt Feature |
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Description: |
Interaction with BFSP1 |
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site |
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246 |
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Aging Cell |
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The oxidized thiol proteome in aging and cataractous mouse and human lens revealed by ICAT labeling. |
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244-261 |
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